ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys)

gnomAD frequency: 0.00086  dbSNP: rs200566665
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652878 SCV000774750 likely benign Neuropathy, hereditary motor and sensory, type 6B 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531604 SCV001746819 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing SLC25A46: BS2
GeneDx RCV001531604 SCV001796620 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing Observed with another variant in one individual with Parkinson disease; however, it is unknown whether these variants are on the same (in cis) or opposite (in trans) chromosomes (Liu et al., 2022); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: Liu_2022[Preprint])
Ambry Genetics RCV002458148 SCV002735741 likely benign Inborn genetic diseases 2019-09-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic RCV001531604 SCV004227107 uncertain significance not provided 2022-02-03 criteria provided, single submitter clinical testing BP4

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